Canonical Allele Identifier: CA374946897

Gene: AK1

Linked Data

• gnomAD v4: 9-127868352-G-T
• MyVariant Identifiers: chr9:g.130630631G>T (hg19) ; chr9:g.127868352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868352G>T , CM000671.2:g.127868352G>T	GRCh38
NC_000009.11:g.130630631G>T , CM000671.1:g.130630631G>T	GRCh37
NC_000009.10:g.129670452G>T	NCBI36
NG_011792.1:g.14392C>A
NG_011792.2:g.14392C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.985C>A
ENST00000643029.1:c.*2160C>A	ENSP00000496586.1:n.*2160C>A
ENST00000643338.1:c.*2049C>A	ENSP00000495890.1:n.*2049C>A
ENST00000644144.2:c.485C>A MANE Select	ENSP00000494600.1:p.Ala162Asp
ENST00000645007.1:c.*2409C>A	ENSP00000494773.1:n.*2409C>A
ENST00000646171.1:c.*518C>A	ENSP00000495484.1:n.*518C>A
ENST00000223836.10:c.533C>A	ENSP00000223836.10:p.Ala178Asp
ENST00000373156.5:c.485C>A	ENSP00000362249.1:p.Ala162Asp
ENST00000373176.5:c.485C>A	ENSP00000362271.1:p.Ala162Asp
ENST00000413016.5:c.307C>A
ENST00000550143.5:c.265C>A	ENSP00000449130.1:n.265C>A
NM_000476.2:c.485C>A	NP_000467.1:p.Ala162Asp
XM_005251786.2:c.533C>A	XP_005251843.1:p.Ala178Asp
XM_011518348.1:c.485C>A	XP_011516650.1:p.Ala162Asp
XM_011518349.1:c.305C>A	XP_011516651.1:p.Ala102Asp
NM_001318121.1:c.485C>A	NP_001305050.1:p.Ala162Asp
NM_001318122.1:c.533C>A	NP_001305051.1:p.Ala178Asp
XM_017014428.1:c.485C>A	XP_016869917.1:p.Ala162Asp
XM_024447439.1:c.464C>A	XP_024303207.1:p.Ala155Asp
XM_024447440.1:c.305C>A	XP_024303208.1:p.Ala102Asp
NM_001318122.2:c.533C>A	NP_001305051.1:p.Ala178Asp
NM_000476.3:c.485C>A MANE Select	NP_000467.1:p.Ala162Asp
NR_174625.1:n.3804C>A
NR_174626.1:n.3647C>A
NR_174627.1:n.3684C>A
NR_174628.1:n.3062C>A
NR_174629.1:n.3007C>A
NR_174630.1:n.3043C>A
NR_174631.1:n.2988C>A
NR_174632.1:n.3077C>A